CACNA1H
Description
The CACNA1H (calcium voltage-gated channel subunit alpha1 H) is a protein-coding gene located on chromosome 16.
CACNA1H, also known as Calcium channel, voltage-dependent, T type, alpha 1H subunit, is a gene encoding the Cav3.2 protein, a T-type member of the α1 subunit family. This subunit forms part of the voltage-dependent calcium channel complex, which mediates calcium influx into cells upon membrane polarization. The complex consists of α1, α2δ, β, and γ subunits in a 1:1:1:1 ratio. The α1 subunit, with its 24 transmembrane segments, forms the pore for calcium ion passage. Mutations in CACNA1H have been linked to childhood absence epilepsy (CAE). Variants with increased channel activity contribute to susceptibility to idiopathic generalized epilepsy (IGE). The gene is also associated with autism.
CACNA1H encodes a voltage-sensitive calcium channel that generates T-type calcium currents. T-type channels, classified as 'low-voltage activated (LVA)', are characterized by opening at relatively negative membrane potentials and subsequent voltage-dependent inactivation. They play essential roles in pacemaking activities within central neurons and cardiac nodal cells, facilitating calcium signaling in secretory cells and vascular smooth muscle. Furthermore, they contribute to the modulation of neuronal firing patterns. In the adrenal zona glomerulosa, CACNA1H participates in the signaling cascade leading to aldosterone production in response to either angiotensin II or hyperkalemia.
CACNA1H is also known as CACNA1HB, Cav3.2, ECA6, EIG6, HALD4.
